Human SLC25A1 peptide (DAG-P0305)

Nature
Synthetic
Tag/Conjugate
Unconjugated
Cellular Localization
Mitochondrial
Procedure
None
Purity
70 - 90% by HPLC.
Format
Liquid
Preservative
None
Storage
Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles. Information available upon request.
UniProt ID
Antigen Description
This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Function
citrate transmembrane transporter activity;
Synonyms
SLC25A1; solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1; CTP; SEA; D2L2AD; SLC20A3; tricarboxylate transport protein, mitochondrial; citrate transport protein; tricarboxylate carrier protein; solute carrier family 20 (mitochondrial citrate transporter), member 3;

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References


A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: Functional analysis of the mutant protein

MOLECULAR GENETICS AND METABOLISM

Authors: Tunali, Nagehan Ersoy; Marobbio, Carlo M. T.; Tiryakioglu, N. Ozan; Punzi, Giuseppe; Saygili, Seha K.; Onal, Hasan; Palmieri, Ferdinando

The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome is a rare autosomal recessive disorder caused by the functional deficiency of the mitochondrial ornithine transporter 1 (ORC1). ORC1 is encoded by the SLC25A15 gene and catalyzes the transport of cytosolic ornithine into mitochondria in exchange for citrulline. Although the age of onset and the severity of the symptoms vary widely, the disease usually manifests in early infancy. The typical clinical features include protein intolerance, lethargy, episodic confusion, cerebellar ataxia, seizures and mental retardation. In this study, we identified a novel p.Ala15Val (c.44C > T) mutation by genomic DNA sequencing in a Turkish child presenting severe tantrum, confusion, gait disturbances and loss of speech abilities in addition to hyperornithinemia, hyperammonemia and homocitrullinuria. One hundred Turkish control chromosomes did not possess this variant. The functional effect of the novel mutation was assessed by both complementation of the yeast ORT1 null mutant and transport assays. Our study demonstrates that the A15V mutation dramatically interferes with the transport properties of ORC1 since it was shown to inhibit ornithine transport nearly completely. (C) 2014 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).

The mitochondrial ADP/ATP carrier (SLC25 family): Pathological implications of its dysfunction

MOLECULAR ASPECTS OF MEDICINE

Authors: Clemencon, Benjamin; Babot, Marion; Trezeguet, Veronique

In aerobic eukaryotic cells, the high energy metabolite ATP is generated mainly within the mitochondria following the process of oxidative phosphorylation. The mitochondrial ATP is exported to the cytoplasm using a specialized transport protein, the ADP/ATP carrier, to provide energy to the cell. Any deficiency or dysfunction of this membrane protein leads to serious consequences on cell metabolism and can cause various diseases such as muscular dystrophy. Described as a decisive player in the programmed cell death, it was recently shown to play a role in cancer. The objective of this review is to summarize the current knowledge of the involvement of the ADP/ATP carrier, encoded by the SLC25A4, SLC25A5, SLC25A6 and SLC25A31 genes, in human diseases and of the efforts made at designing different model systems to study this carrier and the associated pathologies through biochemical, genetic, and structural approaches. (C) 2012 Elsevier Ltd. All rights reserved.

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